| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ARHGEF28_chr5_73621196_73946990 | 73741375 | GTGTGTGT others(31): Show |
G | intron_variant | MODIFIER | HG02965.hp1 NA19030.hp1 |
a0003a0039 | a0003c0007a0039c0051 | a0003c0007t0005a0039c0051t0001 | a0003c0007t0005g0151a0039c0051t0001g0150 | 2 | 188 | 0.0106 | -38 | c.34- others(53): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ARHGEF4_chr2_130831914_131052253 | 130833379 | GAAAGAAA others(31): Show |
G | upstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 144 | 0.0069 | -38 | c.-35 others(49): Show |
ARHGEF4 | ENSG00000136002.21 | transcript | ENST00000409359.7 | protein_coding | 3534 | chr2 | TogoVar | ||||||
| ARHGEF6_chrX_136660550_136785932 | 136764345 | TTCACAGC others(31): Show |
T | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 247 | 0.0041 | -38 | c.249 others(57): Show |
ARHGEF6 | ENSG00000129675.16 | transcript | ENST00000250617.7 | protein_coding | 2/21 | chrX | TogoVar | ||||||
| ARID2_chr12_45724706_45913037 | 45899673 | ATATATGG others(31): Show |
A | intron_variant | MODIFIER | HG03516.hp2 HG03704.hp1 HG04115.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0316a0001c0001t0001g0317a0001c0001t0003g0280others(3): Show | 6 | 318 | 0.0189 | -38 | c.536 others(57): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ARIH1_chr15_72469330_72607987 | 72513702 | TCCCTCCC others(31): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0132 | a0001c0001t0132g0232 | 1 | 262 | 0.0038 | -38 | c.376 others(55): Show |
ARIH1 | ENSG00000166233.15 | transcript | ENST00000379887.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| ARK2C_chr18_46329018_46468140 | 46397559 | GGTGTGTG others(31): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG00642.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0036a0001c0001t0001g0104a0001c0001t0001g0113others(29): Show | 32 | 260 | 0.1231 | -38 | c.62- others(55): Show |
ARK2C | ENSG00000141622.14 | transcript | ENST00000269439.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ARL10_chr5_176360487_176386909 | 176368658 | AGGGTGGG others(31): Show |
A | intron_variant | MODIFIER | HG03130.hp2 HG03486.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0138a0001c0002t0177 | a0001c0001t0138g0128a0001c0002t0177g0095 | 2 | 418 | 0.0048 | -38 | c.386 others(51): Show |
ARL10 | ENSG00000175414.7 | transcript | ENST00000310389.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ARL10_chr5_176360487_176386909 | 176371498 | GCCTGATA others(31): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(225): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(133): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(185): Show | 228 | 418 | 0.5455 | -38 | c.562 others(52): Show |
ARL10 | ENSG00000175414.7 | transcript | ENST00000310389.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ARL6IP5_chr3_69079937_69111092 | 69107068 | AGAGTTTA others(31): Show |
A | downstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0115 | 1 | 434 | 0.0023 | -38 | c.*24 others(49): Show |
ARL6IP5 | ENSG00000144746.7 | transcript | ENST00000273258.4 | protein_coding | 977 | chr3 | TogoVar | ||||||
| ARPC5L_chr9_124857130_124882733 | 124876636 | CTCTGCTT others(31): Show |
C | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 404 | 0.0025 | -38 | c.400 others(53): Show |
ARPC5L | ENSG00000136950.13 | transcript | ENST00000353214.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| ARSJ_chr4_113895284_113984647 | 113924056 | AATATATA others(31): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0006 | a0006c0009 | a0006c0009t0002 | a0006c0009t0002g0232 | 1 | 350 | 0.0029 | -38 | c.399 others(57): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
| ART1_chr11_3640128_3669416 | 3663066 | ATCTCATC others(31): Show |
A | intron_variant | MODIFIER | NA18612.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0048 | 1 | 394 | 0.0025 | -38 | c.887 others(54): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ART4_chr12_14820569_14848526 | 14830649 | GTATATAT others(31): Show |
G | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0290 | 1 | 380 | 0.0026 | -38 | c.854 others(55): Show |
ART4 | ENSG00000111339.12 | transcript | ENST00000228936.6 | protein_coding | 2/2 | chr12 | TogoVar | ||||||
| ASAP1_chr8_130047104_130448674 | 130069877 | TGGCTCAA others(31): Show |
T | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0199 | 1 | 308 | 0.0033 | -38 | c.270 others(57): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | ||||||
| ASB18_chr2_236188459_236269406 | 236237400 | GGGGCGCG others(31): Show |
G | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0024 | a0001c0024t0018 | a0001c0024t0018g0061 | 1 | 250 | 0.0040 | -38 | c.596 others(53): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 3/5 | chr2 | TogoVar | ||||||
| ASB1_chr2_238421927_238457250 | 238455785 | TGGGGACT others(31): Show |
T | downstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0121 | 1 | 416 | 0.0024 | -38 | c.*92 others(49): Show |
ASB1 | ENSG00000065802.12 | transcript | ENST00000264607.9 | protein_coding | 3536 | chr2 | TogoVar | ||||||
| ASB5_chr4_176208673_176274222 | 176218554 | TATATATT others(31): Show |
T | intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 410 | 0.0024 | -38 | c.671 others(55): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
| ASB5_chr4_176208673_176274222 | 176219537 | TATATATG others(31): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01891.hp1 HG06807.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0224a0001c0001t0001g0309others(2): Show | 5 | 410 | 0.0122 | -38 | c.670 others(55): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
| ASCC1_chr10_72091032_72221276 | 72218161 | AAAAAATA others(31): Show |
A | upstream_gene_variant | MODIFIER | HG03486.hp2 | a0007 | a0007c0008 | a0007c0008t0002 | a0007c0008t0002g0164 | 1 | 216 | 0.0046 | -38 | c.-20 others(49): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1886 | chr10 | TogoVar | ||||||
| ASCC2_chr22_29783611_29843274 | 29818403 | TACACACA others(31): Show |
T | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 372 | 0.0027 | -38 | c.542 others(55): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 5/19 | chr22 | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1443048 | CACCATCG others(31): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01123.hp2 HG01975.hp2 others(2): Show |
a0001a0002a0003 | a0001c0042a0002c0003a0003c0005others(1): Show | a0001c0042t0001a0002c0003t0001a0003c0005t0001others(1): Show | a0001c0042t0001g0005a0002c0003t0001g0006a0002c0003t0001g0013others(2): Show | 5 | 185 | 0.0270 | -38 | c.94- others(51): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1443056 | TGGACACA others(31): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG02886.hp1 NA19240.hp1 |
a0003a0005 | a0003c0002a0005c0038 | a0003c0002t0001a0005c0038t0001 | a0003c0002t0001g0157a0003c0002t0001g0158a0005c0038t0001g0113 | 3 | 185 | 0.0162 | -38 | c.94- others(51): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1453754 | AGTGGAGA others(31): Show |
A | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01516.hp2 HG01884.hp1 others(1): Show |
a0001a0002a0020 | a0001c0042a0002c0003a0020c0045 | a0001c0042t0001a0002c0003t0001a0020c0045t0001 | a0001c0042t0001g0005a0002c0003t0001g0006a0002c0003t0001g0093others(1): Show | 4 | 185 | 0.0216 | -38 | c.-95 others(47): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 846 | chrX | TogoVar | ||||||
| ASNS_chr7_97846677_97877408 | 97876859 | GCAAAATT others(31): Show |
G | upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 436 | 0.0023 | -38 | c.-46 others(49): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 4452 | chr7 | TogoVar | ||||||
| ASPDH_chr19_50506603_50518913 | 50507969 | AACTCTGC others(31): Show |
A | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01109.hp1 HG01261.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(1): Show | 27 | 372 | 0.0726 | -38 | c.*37 others(49): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 3633 | chr19 | TogoVar | ||||||
| ASPG_chr14_104080700_104120582 | 104093622 | CTGGGTGG others(31): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00609.hp2 others(152): Show |
a0002a0008a0009others(1): Show | a0002c0002a0002c0003a0002c0005others(7): Show | a0002c0002t0002a0002c0002t0005a0002c0002t0008others(27): Show | a0002c0002t0002g0002a0002c0002t0002g0004a0002c0002t0002g0006others(104): Show | 155 | 368 | 0.4212 | -38 | c.303 others(51): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| ASRGL1_chr11_62332448_62398412 | 62375428 | TTATATAT others(31): Show |
T | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 370 | 0.0027 | -38 | c.492 others(57): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ATAD5_chr17_30826966_30900869 | 30850849 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG02300.hp2 NA19063.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0009a0002c0002t0002g0040 | 2 | 286 | 0.0070 | -38 | c.245 others(57): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ATCAY_chr19_3875685_3933082 | 3879507 | AAGAAAGA others(31): Show |
A | upstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 384 | 0.0026 | -38 | c.-15 others(49): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 1177 | chr19 | TogoVar | ||||||
| ATG2B_chr14_96274195_96368341 | 96308219 | AATATATA others(31): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG03139.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0023a0001c0003t0044a0001c0003t0045others(1): Show | a0001c0003t0023g0243a0001c0003t0044g0242a0001c0003t0045g0246others(1): Show | 4 | 356 | 0.0112 | -38 | c.430 others(57): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | ||||||
| ATG2B_chr14_96274195_96368341 | 96308231 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0004 | 2 | 356 | 0.0056 | -38 | c.430 others(57): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | ||||||
| ATG4A_chrX_108086778_108159671 | 108148020 | AATATATA others(31): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(41): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(31): Show | 44 | 249 | 0.1767 | -38 | c.815 others(55): Show |
ATG4A | ENSG00000101844.18 | transcript | ENST00000372232.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATL2_chr2_38288954_38382273 | 38325609 | TACACACA others(31): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0003 | a0001c0003t0034 | a0001c0003t0034g0004 | 1 | 236 | 0.0042 | -38 | c.364 others(55): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
| ATP10B_chr5_160558120_160857211 | 160652915 | ATATATAA others(31): Show |
A | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0218 | 1 | 236 | 0.0042 | -38 | c.676 others(55): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | ||||||
| ATP12A_chr13_24675408_24717472 | 24681195 | GAGGAAAC others(31): Show |
G | intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0287 | 1 | 382 | 0.0026 | -38 | c.10- others(51): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP2A1_chr16_28873488_28909466 | 28902839 | TCGAGGCC others(31): Show |
T | frameshift_variant | HIGH | NA18948.hp2 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0227 | 1 | 380 | 0.0026 | -38 | c.267 others(47): Show |
p.Glu others(5): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 19/23 | 2857/3493 | 2673/2985 | 891/994 | chr16 | TogoVar | ||
| ATP2A3_chr17_3918873_3969437 | 3925685 | TCCAGTAC others(31): Show |
T | intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0264 | 1 | 332 | 0.0030 | -38 | c.298 others(55): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 20/20 | chr17 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138784235 | CGTATATA others(31): Show |
C | intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 376 | 0.0027 | -38 | c.-18 others(55): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | ||||||
| ATP6V0D2_chr8_86093910_86159225 | 86145217 | AAGAAAGA others(31): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01943.hp1 HG02055.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0131a0001c0001t0001g0158a0001c0001t0001g0160others(14): Show | 17 | 360 | 0.0472 | -38 | c.639 others(55): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ATP6V0D2_chr8_86093910_86159225 | 86150476 | ATTTTTAA others(31): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 360 | 0.0028 | -38 | c.816 others(53): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ATP6V1E2_chr2_46506847_46547577 | 46546451 | CATATATA others(31): Show |
C | upstream_gene_variant | MODIFIER | HG00609.hp1 HG01346.hp2 HG01515.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0072a0001c0001t0001g0197others(12): Show | 19 | 410 | 0.0463 | -38 | c.-46 others(49): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 3875 | chr2 | TogoVar | ||||||
| ATP8A1_chr4_42403373_42662105 | 42555095 | ATCTATCT others(31): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0187 | 1 | 310 | 0.0032 | -38 | c.141 others(55): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57661623 | GTGCGTGT others(31): Show |
G | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0143 | 1 | 314 | 0.0032 | -38 | c.241 others(55): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 21/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57731308 | AATATATA others(31): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(140): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0014others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0016a0001c0001t0001g0043a0001c0001t0001g0049others(140): Show | 143 | 314 | 0.4554 | -38 | c.181 others(53): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50072952 | CTCTCTCT others(31): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0224 | 1 | 254 | 0.0039 | -38 | c.87+ others(53): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50072962 | CTCTCTCT others(31): Show |
C | intron_variant | MODIFIER | NA19006.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0173 | 1 | 254 | 0.0039 | -38 | c.87+ others(53): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50072966 | CTCTCTCT others(31): Show |
C | intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0218 | 1 | 254 | 0.0039 | -38 | c.87+ others(53): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79066789 | GAGATATT others(31): Show |
G | upstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0127 | 1 | 298 | 0.0034 | -38 | c.-26 others(49): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 2604 | chr18 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79334979 | GCCCTCAC others(31): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02293.hp2 HG03540.hp2 |
a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0285a0001c0006t0007g0286a0001c0006t0007g0290 | 3 | 298 | 0.0101 | -38 | c.202 others(57): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ATRX_chrX_77499880_77791216 | 77626028 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0027 | 1 | 218 | 0.0046 | -38 | c.513 others(57): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 19/34 | chrX | TogoVar |